Full data view for gene POLG

Information The variants shown are described using the NM_002693.2 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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Data_av     

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Owner     
?/. - c.3428A>G r.(?) p.(Glu1143Gly) Unknown - VUS g.89861826T>C g.89318595T>C - - POLG_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3428A>G r.(?) p.(Glu1143Gly) Unknown - VUS g.89861826T>C g.89318595T>C - - POLG_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3428A>G r.(?) p.(Glu1143Gly) Unknown - VUS g.89861826T>C g.89318595T>C - - POLG_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3428A>G r.(?) p.(Glu1143Gly) Unknown - VUS g.89861826T>C g.89318595T>C - - POLG_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3428A>G r.(?) p.(Glu1143Gly) Unknown - VUS g.89861826T>C g.89318595T>C - - POLG_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.3428A>G r.(?) p.(Glu1143Gly) Unknown - VUS g.89861826T>C g.89318595T>C - - POLG_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.3428A>G r.(?) p.(Glu1143Gly) Unknown - likely benign g.89861826T>C g.89318595T>C POLG(NM_002693.2):c.3428A>G (p.E1143G) - POLG_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3428A>G r.(?) p.(Glu1143Gly) Unknown - benign g.89861826T>C g.89318595T>C POLG(NM_002693.2):c.3428A>G (p.E1143G) - POLG_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3428A>G r.(?) p.(Glu1143Gly) Unknown - benign g.89861826T>C g.89318595T>C POLG(NM_002693.2):c.3428A>G (p.E1143G) - POLG_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3428A>G r.(?) p.(Glu1143Gly) Unknown - benign g.89861826T>C g.89318595T>C POLG(NM_002693.2):c.3428A>G (p.E1143G) - POLG_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3428A>G r.(?) p.(Glu1143Gly) Unknown - likely benign g.89861826T>C g.89318595T>C POLG(NM_002693.2):c.3428A>G (p.E1143G) - POLG_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3428A>G r.(?) p.(Glu1143Gly) Parent #1 - likely benign g.89861826T>C g.89318595T>C - - POLG_000001 65 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2307441 Germline - 65/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 65 Mohammed Faruq
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